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Caroli Disease

Abstract

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Synonyms of Caroli Disease

Congenital Dilatation of Intrahepatic Bile Duct

Disorder Subdivisions

No subdivisions found.

General Discussion

Caroli disease is a rare inherited disorder characterized by abnormal widening (dilatation) of the ducts that carry bile from the liver (intrahepatic bile ducts). According to the medical literature, there are two forms of Caroli disease. In most cases, the isolated or simple form is characterized by widening of the bile ducts (dilatation or ectasia). A second, more complex form is often called Caroli syndrome. The complex form or syndrome is associated with the presence of bands of fibrous tissue in the liver (congenital hepatic fibrosis) and high blood pressure in the portal artery (portal hypertension. This form of Caroli disease is also often associated, in ways that are not well understood, with polycystic kidney disease, and, in severe cases, liver failure.

The genetics of Caroli disease are complex as well. The isolated or simple form is transmitted as an autosomal dominant trait, while the complex form associated with polycystic kidney disease is transmitted as an autosomal recessive trait.

Organizations related to Caroli Disease

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